000 | 01794 a2200541 4500 | ||
---|---|---|---|
005 | 20250515014607.0 | ||
264 | 0 | _c20060802 | |
008 | 200608s 0 0 eng d | ||
022 | _a1098-1004 | ||
024 | 7 |
_a10.1002/humu.9408 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHeinen, Stefan | |
245 | 0 | 0 |
_aDe novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. _h[electronic resource] |
260 |
_bHuman mutation _cMar 2006 |
||
300 |
_a292-3 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aChromosomes, Human, Pair 1 |
650 | 0 | 4 | _aCohort Studies |
650 | 0 | 4 |
_aComplement Factor H _xgenetics |
650 | 0 | 4 |
_aErythrocytes _xcytology |
650 | 0 | 4 | _aGene Conversion |
650 | 0 | 4 |
_aHemolytic-Uremic Syndrome _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aModels, Genetic |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aMultigene Family |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aSequence Homology, Nucleic Acid |
650 | 0 | 4 | _aSheep |
700 | 1 | _aSanchez-Corral, Pilar | |
700 | 1 | _aJackson, Michael S | |
700 | 1 | _aStrain, Lisa | |
700 | 1 | _aGoodship, Judith A | |
700 | 1 | _aKemp, Elizabeth J | |
700 | 1 | _aSkerka, Christine | |
700 | 1 | _aJokiranta, T Sakari | |
700 | 1 | _aMeyers, Kevin | |
700 | 1 | _aWagner, Eric | |
700 | 1 | _aRobitaille, Pierre | |
700 | 1 | _aEsparza-Gordillo, Jorge | |
700 | 1 | _aRodriguez de Cordoba, Santiago | |
700 | 1 | _aZipfel, Peter F | |
700 | 1 | _aGoodship, Timothy H J | |
773 | 0 |
_tHuman mutation _gvol. 27 _gno. 3 _gp. 292-3 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9408 _zAvailable from publisher's website |
999 |
_c16083148 _d16083148 |